Canonical Allele Identifier: CA2925538

Gene: TMEM165

Linked Data

• ClinVar Variation Id: 349067
• ClinVar RCV Id: RCV000262152
• dbSNP Id: rs372893311
• ExAC: 4:56283407 A / G
• gnomAD v2: 4-56283407-A-G
• gnomAD v3: 4-55417240-A-G
• gnomAD v4: 4-55417240-A-G
• MyVariant Identifiers: chr4:g.56283407A>G (hg19) ; chr4:g.55417240A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.55417240A>G , CM000666.2:g.55417240A>G	GRCh38
NC_000004.11:g.56283407A>G , CM000666.1:g.56283407A>G	GRCh37
NC_000004.10:g.55978164A>G	NCBI36
NG_032881.1:g.26328A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381334.10:c.602A>G MANE Select	ENSP00000370736.5:p.Asp201Gly
ENST00000381334.9:c.602A>G	ENSP00000370736.5:p.Asp201Gly
ENST00000506198.5:c.208-7298A>G	ENSP00000425449.1:n.208-7298A>G
ENST00000508404.5:c.*474A>G	ENSP00000422639.1:n.*474A>G
ENST00000508561.5:n.318A>G
ENST00000511710.1:n.726A>G
ENST00000514904.5:n.1056A>G
ENST00000608091.1:c.112A>G
NM_018475.4:c.602A>G	NP_060945.2:p.Asp201Gly
NR_073070.1:n.982A>G
XM_011534394.1:c.602A>G	XP_011532696.1:p.Asp201Gly
XM_011534394.3:c.602A>G	XP_011532696.1:p.Asp201Gly
XM_017008412.1:c.413A>G	XP_016863901.1:p.Asp138Gly
XR_001741287.2:n.1139A>G
NM_018475.5:c.602A>G MANE Select	NP_060945.2:p.Asp201Gly
NR_073070.2:n.938A>G